Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation BEFREE Defects in muscle, skeletal, receptor tyrosine kinase (MuSK) cause two distinct phenotypes: fetal akinesia with multiple congenital anomalies (Fetal akinesia deformation sequence [MIM:208150]) and early onset congenital myasthenia (myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency [MIM:616325]). 30719842

2019
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 Biomarker BEFREE Here we identify MUSK as a novel cause of lethal FADS. 25537362

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GermlineCausalMutation ORPHANET Here we identify MUSK as a novel cause of lethal FADS. 25537362

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 Biomarker GENOMICS_ENGLAND MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 25612909

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 Biomarker GENOMICS_ENGLAND Here we identify MUSK as a novel cause of lethal FADS. 25537362

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation UNIPROT Here we identify MUSK as a novel cause of lethal FADS. 25537362

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GermlineCausalMutation ORPHANET MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 25612909

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation UNIPROT MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). 25612909

2015
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation BEFREE Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983). 19645055

2009
Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 CausalMutation CLINVAR

Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 Biomarker HPO

Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 Biomarker CTD_human

Entrez Id: 4593
Gene Symbol: MUSK
MUSK
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.730 GeneticVariation CLINVAR

Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 Biomarker BEFREE FADS has been reported to be caused by pathogenic variants in genes previously associated with CMS including these involved in endplate development and maintenance: MuSK, DOK7, and RAPSN. 31730230

2020
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 GeneticVariation BEFREE In the first family, FADS relates to a homozygous c.484G > A (p.Glu162Lys) mutation in the gene RAPSN. 28495245

2017
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 Biomarker GENOMICS_ENGLAND Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment. 25792100

2015
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 Biomarker BEFREE The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence. 26147564

2015
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 CausalMutation CLINVAR Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. 24319099

2014
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 CausalMutation CLINVAR Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome. 25194721

2014
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 CausalMutation CLINVAR Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients. 21305573

2011
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 CausalMutation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 CausalMutation CLINVAR Identification of previously unreported mutations in CHRNA1, CHRNE and RAPSN genes in three unrelated Italian patients with congenital myasthenic syndromes. 20157724

2010
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 GeneticVariation BEFREE Pena and Shokeir described the phenotype of two sisters in 1974, and subsequently their features have become recognized as a sequence of deformational changes related to decreased or absent fetal movement (fetal akinesia deformation sequence [FADS]), because of the work of Moessinger (1983). 19645055

2009
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 GeneticVariation CLINVAR Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients. 19620612

2009
Entrez Id: 5913
Gene Symbol: RAPSN
RAPSN
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.650 GeneticVariation BEFREE We hypothesized that mutations in acetylcholine receptor-related genes might also result in a MPS/fetal akinesia phenotype and so we analyzed 15 cases of lethal MPS/fetal akinesia without CHRNG mutations for mutations in the CHRNA1, CHRNB1, CHRND, and rapsyn (RAPSN) genes. 18179903

2008